Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy).

C. B. Whitley, S. J. Schwarzenberg, B. A. Burke, D. K. Freese, R. J. Gorlin

Research output: Contribution to journalReview article

16 Citations (Scopus)

Abstract

Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long-term prognosis.

Original languageEnglish (US)
Pages (from-to)211-220
Number of pages10
JournalAmerican journal of medical genetics. Supplement
Volume3
StatePublished - 1987

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Hyperbilirubinemia
Fibrosis
Liver
Liver Diseases
Incidental Findings
Bile Ducts
Respiratory Insufficiency
Renal Insufficiency
Survivors
Early Diagnosis
Autopsy
Newborn Infant
Pathology
Kidney
Jeune syndrome
Therapeutics

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Direct hyperbilirubinemia and hepatic fibrosis : a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). / Whitley, C. B.; Schwarzenberg, S. J.; Burke, B. A.; Freese, D. K.; Gorlin, R. J.

In: American journal of medical genetics. Supplement, Vol. 3, 1987, p. 211-220.

Research output: Contribution to journalReview article

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abstract = "Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long-term prognosis.",
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T2 - a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy).

AU - Whitley, C. B.

AU - Schwarzenberg, S. J.

AU - Burke, B. A.

AU - Freese, D. K.

AU - Gorlin, R. J.

PY - 1987

Y1 - 1987

N2 - Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long-term prognosis.

AB - Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long-term prognosis.

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